ESPE Abstracts

Background: Transgirls (female-identifying adolescents assigned male at birth) can be treated with GnRH (gonadotropin releasing hormone analogs) followed by the addition of estrogens.Recently in a small cohort of 25 transgirls their average final height was reported to be +1.9 SDS (standard deviation score) calculated for adult Dutch females.High dosage estrogens can be used to stimulate bone maturation, thereb...

People born with a variation in sex characteristics (VSC) face the challenge of having atypically sexed bodies. This quantitative study recruited 10 young adults with a VSC (14 to 24 years); 18 parents of children with a VSC; and 22 health professionals working in the VSC field. Interviews were semi structured, digitally recorded and transcribed. Using thematic analysis, we identified key themes regarding participants' experiences of health care decision-making. This study...

Background: The new adipokine/myokine meteorin-like (Metrnl) has been proposed to be of interest for obesity and metabolic disease through its potential role for brown/beige fat thermogenesis and macrophage activation in mice. METRNL was reported to be expressed in white adipose tissue (AT) and upregulated during adipogenesis and by exercise and.Aims: In this study we analysed the expression of METRNL during human adipogenesis and its regulation...

Background: Maternal triglycerides, fatty acids, and their metabolites together with sugars and metabolic intermediates may play a role in newborn outcomes. Furthermore, maternal amino acids, acylcarnitines, lipids and fatty acids and their metabolites are associated with cord C-peptide independent of maternal BMI and glycemia, highlighting the potential contribution of maternal metabolites to offspring outcomes. This study examined the associations of materna...

Introduction: Metabolic control (MC) of patients with type 1 diabetes (DM1) is linked with complications in short and long term follow up. Adolescence is a critical period in the treatment of DM1, making it difficult to achieve good MC. Few studies, all conducted in the United States, have shown an association between mother´s depressive symptoms with poorer MC of their adolescent.Objective: To evaluate the associat...

The experiences of older adults with Variations in Sex Characteristics (VSC or Differences/Disorders in Sex Development/DSD) are well documented. However there has been a gap in the literature with respect to representing the voices of younger people. This qualitative research study has been conducted in collaboration with Intersex Trust Aotearoa New Zealand. Ten young people with VSC were recruited via health professionals, intersex advocates, support groups and social media ...

Background: Wolfram Syndrome (WS) is a rare progressive neurodegenerative disorder characterised by early-onset diabetes and optic atrophy as well as a variable spectrum of other clinical features. It is caused by mutations in the WFS1 gene. There is currently limited published literature on pubertal progression and gonadal function in WS.Aims: To review the gonadal function and pubertal progression of a cohort of adoles...

Background: The most common endocrine cause of growth disorders in childhood is growth hormone deficiency (GHD). The rare monogenic forms of GHD are inherited as autosomal dominant or recessive traits and manifest as isolated deficiency or in combination with other hormone deficiencies. Here, we report on a three-year-old girl with a severe growth retardation (height 77 cm, – 5.6 S.D.S.). She is the only child of non-consanguineous parents from northern Ira...

Introduction: Turner's syndrome (TS) is associated with several manifestations the most frequent being short stature and hypogonadism. Some authors (Nadeem, 2012; Bakalov, 2008) reported that individuals with TS have increased risk of fractures, but the etiology and mechanism of bone fragility have not been yet fully elucidated and may be exacerbated by hormonal factors (Cintron, 2017; Soucek, 2015). Bone densitometry (BD) through the emission of double en...

The Silver-Russel syndrome (SRS) is characterized by an intrauterine growth retardation accompanied by postnatal growth deficiency. Affected individuals typically have proportionately short statue, finger deformities as well as typical facial features. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7) and 35%–50% showed hypomethylation of the parental imprinting center region 1 (ICR1) of chromosome 11p15.5. In the recent past also ...